R45Q (p.Arg45Gln) variant of RIT1 (GTP-binding protein Rit1)
R45Q (p.Arg45Gln) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Noonan syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- NCI-TCGA Cosmic COSV6416
- cosmic curated COSV64166
- Uncertain significance
- Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.14
- CADD 23.10
- PolyPhen-2 0.07
- SIFT 0.79
- ClinVar: Uncertain significance (Noonan syndrome 8)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available